Nawaz Khalid, Khan Sadiq Noor, Bashir Aimal, Rehman Abdur, Tariq Masood Khan Muhammad, Mir Awal, Ahmad Shehryar
Institute of Paramedical Sciences, Khyber Medical University, Peshawar, PAK.
Medical Laboratory Technology, University of Haripur, Haripur, PAK.
Cureus. 2024 Jan 10;16(1):e52002. doi: 10.7759/cureus.52002. eCollection 2024 Jan.
Fetal hemoglobin (HbF) has been reported to be associated with disease severity and treatment response to HbF-inducing therapies like Hydroxyurea and thalidomide in patients suffering from transfusion-dependent beta-thalassemia (TDT). However, the role of hemoglobin A2 (HbA2) remains less clear in TDT, therefore this study aims to determine the impact of both HbF and HbA2 levels on disease severity and treatment response.
A prospective observational study was conducted at the Peshawar Institute of Medical Sciences and Fatimid Foundation Peshawar from May 2023 to October 2023. A total of 232 TDT-diagnosed patients were enrolled using a convenient sampling technique, whereas coinheritance of beta-thalassemia with other hemoglobinopathies was excluded.
This study reveals a significant impact of HbF on disease severity (p<0.05) but finds no substantial correlation (p>0.05) between HbA2 levels and disease severity. Additionally, HbF and HbA2 levels exhibit no association with treatment response categories in patients receiving HbF induction therapy, and various mutations do not significantly alter HbF and HbA2 levels or disease severity parameters in TDT patients.
The study established a significant association between HbF and disease severity. However, regarding treatment response, neither HbF nor HbA2 levels impact response categories. Combinatorial treatment with hydroxyurea and thalidomide showed superior efficacy compared to monotherapy. A larger sample size and extended follow-up are recommended to further explore the impact of HbF, HbA2, and various mutations on disease severity and treatment response.
据报道，在依赖输血的β地中海贫血（TDT）患者中，胎儿血红蛋白（HbF）与疾病严重程度以及对羟基脲和沙利度胺等诱导HbF生成疗法的治疗反应相关。然而，血红蛋白A2（HbA2）在TDT中的作用仍不太明确，因此本研究旨在确定HbF和HbA2水平对疾病严重程度和治疗反应的影响。
2023年5月至2023年10月在白沙瓦医学科学研究所和白沙瓦法蒂玛基金会进行了一项前瞻性观察研究。采用方便抽样技术共纳入232例确诊为TDT的患者，排除β地中海贫血与其他血红蛋白病的共遗传情况。
本研究揭示了HbF对疾病严重程度有显著影响（p<0.05），但发现HbA2水平与疾病严重程度之间无显著相关性（p>0.05）。此外，在接受HbF诱导治疗的患者中，HbF和HbA2水平与治疗反应类别无关，并且各种突变对TDT患者的HbF和HbA2水平或疾病严重程度参数没有显著影响。
该研究确定了HbF与疾病严重程度之间存在显著关联。然而，关于治疗反应，HbF和HbA2水平均不影响反应类别。与单一疗法相比，羟基脲和沙利度胺联合治疗显示出更高的疗效。建议采用更大样本量和更长随访时间进一步探索HbF、HbA2和各种突变对疾病严重程度和治疗反应的影响。
